Gene: HRAS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Functional specificity of ras isoforms: so similar but so different. 21779495

2011
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Role of the switch II region in the conformational transition of activation of Ha-ras-p21. 10716188

2000
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR rac, a novel ras-related family of proteins that are botulinum toxin substrates. 2674130

1989
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR The ras gene family and human carcinogenesis. 3283542

1988
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR ras genes. 3304147

1987
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells. 3004741

1986
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses. 6288698

1982
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus. 6287572

1982
dbSNP: rs727503093
rs727503093
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus. 6287573

1982
dbSNP: rs35613389
rs35613389
HRAS ; LRRC56
CG 0.700 CausalMutation CLINVAR

dbSNP: rs398122808
rs398122808
HRAS ; LRRC56
ACCT 0.700 CausalMutation CLINVAR

dbSNP: rs398122809
rs398122809
HRAS ; LRRC56
CTCT 0.700 CausalMutation CLINVAR

dbSNP: rs587777239
rs587777239
HRAS ; LRRC56
GGTCCCGCATGGCGCTGTACTC 0.700 CausalMutation CLINVAR

dbSNP: rs727504747
rs727504747
HRAS ; LRRC56
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs121917756
rs121917756
HRAS ; LRRC56
0.710 GeneticVariation UNIPROT Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
TT 0.750 GeneticVariation CLINVAR In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009

2011
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
TT 0.750 GeneticVariation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
A 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. 19995790

2010
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation. 19995790

2010
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
0.800 GeneticVariation UNIPROT Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008